TRPM3, variants, traits, and what the research shows

TRPM3 - what this gene does

Research on TRPM3 has turned up variants linked to rare diseases, vision conditions, and neurological traits, along with lower-tier signals for immune function, cancer, mental health, and coagulation.

Key takeaways

• Five top-ranked variants are each independently linked to rare disease traits, the strongest repeated signal in this dataset.
• A high-magnitude vision variant is on file alongside two neurological signals.
• Additional associations span immune, cancer, mental health, and coagulation traits at a lower evidence tier.
• 219 variants are catalogued for this gene; the associations shown are population-level signals, not individual health predictions.
• Replication across multiple independent rare-disease variants strengthens confidence in that trait category.

Notable variants

rs146800889, rs184424910, rs374070652, rs41287375, and rs765032665 each carry a magnitude score of 5.50 - the highest in this dataset - and are all linked to rare disease traits. Also at magnitude 5.50, rs767146880 is linked to a vision trait. At magnitude 5.00, rs1564493599 and rs2131863747 are each linked to neurological traits. Among the 4.50-magnitude tier, rs113733099 is linked to an immune trait and rs12338666 to cancer; both have dedicated pages with further detail.

Trait associations

The dominant signal for this gene is rare disease. Five variants at the top magnitude (5.50) - rs146800889, rs184424910, rs374070652, rs41287375, rs765032665 - all point there, and four more at magnitude 5.00 - rs2041696318, rs2131863502, rs2538309346, rs2538309680 - do the same, along with rs77743915 at 4.50. The convergence of ten independent variants on rare disease is the most notable pattern in this data. Vision is represented by rs767146880 at magnitude 5.50. Neurological associations appear through rs1564493599 and rs2131863747 at magnitude 5.00. At the 4.50 tier, additional associations cover immune (rs113733099), cancer (rs12338666, rs137961487), mental health (rs2043144), and coagulation (rs59300564). Two further 4.50-magnitude variants - rs188396304 and rs7860557 - are catalogued without trait annotations.

Evidence quality

A total of 219 variants are on file for this gene, with 17 carrying prior research summaries; the 20 variants described here were pre-sorted by a composite of magnitude and evidence strength. The highest-scoring variants sit at 5.50, and the clustering of ten independent rare-disease variants across two magnitude tiers is the strongest pattern available. Detailed GWAS (genome-wide association study - a research method that scans large numbers of people's genomes to find variants statistically linked to a trait) sample sizes and replication cohort counts are not included in the current data, which limits how firmly any individual trait association can be ranked. The cancer, immune, mental health, and coagulation signals sit at the lower 4.50 magnitude tier and should be treated as preliminary until independently replicated in larger cohorts.

What this is NOT

These variants are population-level statistical signals drawn from group-level studies, not deterministic predictors of any individual's health. This entry is informational only; we do not prescribe, diagnose, or advise any course of action.